3.2 Chromosomes Flashcards

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1
Q

Electron migrograph of Escherichia coli (E. coli) bacteria.

A
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2
Q

What are prokaryotes?

A

-Microscopic, single-celled organisms without specialised compartments inside the cell.

-Prokaryotes include two of the three domains of life: eubacteria and archaea.

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3
Q

What is a genome?

A

The entire sum of an organism’s genetic information.

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4
Q

Describe the genome in prokaryotes

A

In prokaryotes, there is usually a single chromosome that contains the entire genome, including all the genes necessary to carry out the functions of life.

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5
Q

Describe the structure of prokaryotic chromosomes

A

-The chromosome is a circular DNA double helix molecule.

-The chromosome has the shape of a closed loop, like a rubber band.

-Prokaryotic DNA is called ‘naked DNA’ because, in contrast to eukaryotic DNA, it is not organised around associated histone proteins.

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6
Q

What do prokaryotes have in addition to the single chromosome that carries all the essential genes of the species?

A

Much smaller loops of DNA known as plasmids.

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7
Q

Describe the plasmids in prokaryotes

A

-A bacterium may contain one or more copies of a plasmid or none at all.

-A plasmid may contain one or several genes, often related to a specific function such as digesting a particular food source or resisting an otherwise deadly antibiotic.

-Bacteria can easily exchange plasmids, sometimes even with a different species of prokaryote.

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8
Q

Describe the presence of plasmids in eukaryotes

A

-Although plasmids are very common in prokaryotes, they are generally not found in eukaryotes.

-(However, there are exceptions. For example, Saccharomyces cerevisiae, a unicellular yeast used in baking, contains a small plasmid.)

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9
Q

Diagram of a bacterium, showing the plasmid.

The plasmid carries two genes, making the bacterial cell resistant to ampicillin and tetracycline, two commonly used antibiotics.

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10
Q

How can plasmids be exchanged between bacteria?

A

-Plasmids can be easily exchanged between bacteria, providing a mechanism by which antibiotic resistance spreads.

-Antibiotic-resistant bacteria are a major problem in hospitals.

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11
Q

Diagram of a plasmid containing two antibiotic resistance genes

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12
Q

What are plasmids?

A

Much smaller circular DNA molecules that are easily exchanged between prokaryotes and may contain several genes.

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13
Q

Why is the single, circular prokaryotic chromosome referred to as ‘naked’?

A

Because it is not associated with any proteins.

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14
Q

How do eukaryotic organisms separate their genetic material from the cytoplasm?

A

By containing it in the membrane-bound nucleus.

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15
Q

Describe eukaryotic chromosomes and DNA

A

-Eukaryotic chromosomes consist of one or two long linear DNA molecules, depending on the phase of the cell cycle .

-Each DNA molecule has two ends, like a piece of thread.

-The DNA molecule is wrapped around basic (alkaline) proteins called histones.

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16
Q

Diagram of the eukaryotic chromosome structure: DNA and histones form nucleosomes

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17
Q

How are eukaryotic chromosomes present during interphase?

A

During interphase, when the information on the DNA is in active use, the chromosomes are visible only with an electron microscope in a less organised form called chromatin.

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18
Q

What does DNA being organised as chromatin during interphase allow?

A

This allows the DNA-transcribing enzymes to access the genes with the information they need to keep the cell functioning.

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19
Q

Explain what happens to chromosomes in the first stages of mitosis (and meiosis)

A

The chromosomes condense to form highly organised ‘X-shaped’ structures visible with a light microscope.

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20
Q

Describe the structure of X-shaped chromosomes (including sister chromatids and the centromere)

A

-The two lines that form the ‘X’ are identical copies of the chromosome, known as sister chromatids.

-The place where the two strands connect is called the centromere .

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21
Q

What is the purpose of the centromere?

A

It holds the sister chromatids of a chromosome together until they are separated in anaphase (at which point each chromatid is considered a chromosome).

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22
Q

What does the supercoiled state of a chromosome allow?

A

It allows them to separate without getting tangled and torn.

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23
Q

Describe the chromosomes in most of your body cells

A

Most of your body cells contain two full sets of chromosomes: one from your mother (maternal copy) and one from your father (paternal copy).

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24
Q

What are homologous pairs and chromosomes?

A

-Your two versions of the same chromosome are called a homologous pair.

-Homologous chromosomes carry the same set of genes in the same locations.

-However, there can be small differences between the nucleotide sequences of the same gene.

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25
Q

What are alleles?

A

-Different versions of the same gene are called alleles.

-Alleles usually differ from each other by only a few DNA base pairs, but may lead to different characteristics and phenotypes.

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26
Q

Diagram of two supercoiled chromosomes, each consisting of two chromatids

A
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27
Q

What are eukaryotic chromosomes?

A

Linear DNA molecules associated with histone proteins.

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28
Q

In any eukaryote species, there are different chromosomes that carry ___

A

Different genes.

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29
Q

Homologous chromosomes carry the same sequence of genes but not necessarily ___

A

The same alleles of those genes.

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30
Q

How is the human genome arranged into chromosomes?

A

The human genome is arranged into 23 pairs of chromosomes; that is 46 chromosomes in total.

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31
Q

Explain how sex chromosomes work in humans and other eukaryotes

A

-One pair of chromosomes, called the sex chromosomes, determines the sex of the organism.

-In species like humans where the male has two different sex chromosomes, the sex chromosomes are referred to as ‘X’ and ‘Y’.

-Usually, if you have two X chromosomes, you develop as a female, while if you have an X and a Y chromosome, you develop as a male.

-Other eukaryotes have different methods of determining the sex of offspring.

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32
Q

What are autosomes?

A

-The chromosomes in the other 22 pairs (other than the sex chromosomes) are called autosomes, meaning they do not influence sex determination.

-They are numbered roughly according to length.

-Chromosome 1 is the longest and chromosome 22 is nearly the shortest.

-Chromosome 1 is approximately 250 million bases in length and carries about 2 000 genes while chromosome 22 is only 51 million bases and carries around 500 genes.

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33
Q

Different chromosomes carry different ___

A

Sets of genes

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34
Q

In eukaryotes, the genome consists of the sum of all the ___

A

Genetic information on all of the different chromosomes.

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35
Q

Table showing the variation in genome size that exists among different organisms

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36
Q

Comparing genome sizes for the exam

A

You should be able to compare the genome size in T2 phage, Escherichia coli, Drosophila melanogaster, Homo sapiens and Paris japonica.

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37
Q

Genome size does not always correlate with ___

A

Number of genes.

38
Q

Explain how genome size does not always correlate with number of genes

A

-For example, the human genome is around 60 times larger than that of E. coli, but humans have only about 6 times more genes.

-The main reason is that some parts of a chromosome, especially in eukaryotes, may not code for polypeptides.

39
Q

Graph showing genome size and number of genes in prokaryotes, eukaryotes and viruses.

Notice that although there is a general correlation between genome size and number of genes, there are many outliers.

A
40
Q

How does the genome of a Paris japonica (woodland plant) ( 150 billion nitrogenous base pairs long) compare to that of a fruit fly and human?

A

Larger than both Drosophila melanogaster (a fruit fly) and Homo sapiens (humans).

41
Q

What does it mean that cells are diploid?

A

Most of the cells in your body are diploid, meaning the nucleus contains two copies of each chromosome – 23 homologous pairs, for a total of 46 chromosomes.

42
Q

Where are haploid nuclei only found in the human body?

A

Haploid nuclei, which contain only one chromosome from each pair, are found only in your gametes, or sex cells (sperm and ova).

43
Q

How are haploid cells produced?

A

From diploid cells by meiosis.

44
Q

Describe the chromosomes that gametes contain

A

-In addition to its 22 autosomes, a human ovum (egg cell) contains one copy of the X chromosome.

-The sperm cell contains 22 autosomes and one copy of a sex chromosome, either an X or a Y.

-It is therefore the father’s gamete that determines the sex of the offspring.

45
Q

Explain how the father’s gamete determined the sex of the offspring (in humans)

A

-If the sperm contributes an X chromosome, the zygote (the single, diploid cell formed by the union of the sperm and egg) will have two X chromosomes and develop as a female.

-If the sperm contributes a Y chromosome, the zygote will have an X and a Y and develop as a male.

46
Q

What are autosomes and what do they control?

A

-Autosomes are chromosomes that do not determine the biological sex of the organism, but do control the inheritance of all traits except those that are sex-linked.

-Sex-linked traits are found on the sex chromosomes and are therefore not controlled by autosomes.

47
Q

Describe the chromosomes in the embryo that develops after a haploid sperm and haploid egg fuse to form a zygote

A

-The embryo that develops through mitotic divisions will have all 46 chromosomes in each of its cells.

-All of the autosome pairs are homologous because both the maternal copy and the paternal copy contain the same genes in the same positions on the chromosome.

-Although the sex chromosomes have different genes and different lengths, they do share a homologous region that allows them to act as a pair during meiosis.

48
Q

Diagram of homologous chromosomes

A
49
Q

What do diploid nuclei have?

A

Pairs of homologous chromosomes.

50
Q

What do haploid nuclei have?

A

One chromosome of each pair of homologous chromosomes.

51
Q

What is a homologue?

A

Each chromosome in a homologous pair.

52
Q

What is a tetrad?

A

A structure consisting of two homologues.

53
Q

Describe how the number of chromosomes differs among species

A

-The number of chromosomes is a characteristic feature of members of a species.

-Usually, all individuals within a species have the same number of chromosomes (except in cases of chromosomal mutations).

-In some species, the different sexes have different numbers of chromosomes.

-For example, in Wallabia bicolor (swamp wallaby) females have 10 chromosomes and males have 11.

-However, even in these cases, individuals of each sex have a known characteristic chromosome number.

54
Q

Table whoswing the diploid chromosome number of some species

A
55
Q

Comparing chromosome numbers for the exam

A

You should be able to compare the diploid chromosome numbers of Homo sapiens , Pan troglodytes , Canis familiaris , Oryza sativa , and Parascaris equorum .

56
Q

Is it possible for different species to have the same characteristic number of chromosomes?

A

-Yes

-For example, Homo sapiens (humans) and Cytisus scoparius (Scotch broom, a flowering shrub) both have a diploid number of 46.

57
Q

Is it possible for closely related species to have very different chromosome numbers?

A

-Yes

-For example, different flowering whitlow grasses in the Draba genus have between 16 and 144 chromosomes.

58
Q

If a species has a haploid number of 12, how many chromosomes would be found in an egg cell (ovum)?

A

12

Gametes (sex cells) such as sperm and egg are haploid, so this gamete will contain 12 chromosomes. Its diploid cells would contain 24 chromosomes.

59
Q

How can an organism’s chromosomes be seen?

A

Under a light microscope

60
Q

What is the best mitotic phase for viewing chromosomes?

A

Metaphase

61
Q

Why is metaphase the best mitotic phase for viewing chromosomes?

A

-The chromosomes are fully condensed, making them easier to identify.

-The chromosomes are spread apart by squashing the cell.

-This allows images to be captured and analysed, usually by computer.

62
Q

How are homologous chromosomes aligned?

A

-By length, location of the centromere and by bands of colour differences (striations) induced using dyes.

-This technique is called karyotyping.

-The result is a karyogram, which is a photograph or image of the homologous pairs of chromosomes in decreasing length

63
Q

What does a karyogram show?

A

The chromosomes of an organism in homologous pairs of decreasing length.

64
Q

What is the difference between the terms karyotype and karyogram?

A

-Karyotype is a property of a cell, the number and type of chromosomes present in the nucleus.

-A karyogram is a photograph or diagram of them.

65
Q

Picture of a normal female karyogram

A
66
Q

What can a karyogram be used for?

A

-To deduce the sex of an individual, to find missing or extra chromosomes, and to detect other chromosomal mutations.

-It is not able to detect differences in alleles or mutations that affect a single gene.

67
Q

Describe the karyogram

A

-This is a karyogram of a female because two X chromosomes are present.

-The set of autosomes is normal, and there are no duplications or missing chromosomes.

-These chromosomes may appear to be unreplicated, but each actually has two chromatids.

-The sister chromatids are so closely aligned that it is difficult to distinguish them, but they are present.

68
Q

What is non-disjunction?

A

-During meiosis, when the gametes are formed, the resulting ova or sperm cells can sometimes contain an extra or missing copy of a chromosome.

-This is caused by the failure of a pair of homologous chromosomes or sister chromatids to separate and is known as non-disjunction.

69
Q

What is trisomy?

A

-Zygotes formed when one gamete has an extra chromosome give rise to individuals with three copies of one particular chromosome, a condition called trisomy.

-With most autosomes, trisomy is fatal.

70
Q

When does Down syndrome occur?

A

When there are three copies of chromosome 21 present (trisomy 21).

71
Q

What does down syndrome cause?

A

-This syndrome causes hearing loss, heart and vision problems, intellectual disability and slower growth leading to smaller stature.

-The severity of these symptoms varies greatly between individuals.

-There is no cure for Down syndrome, but with early intervention and therapy many individuals with Down syndrome lead independent and fulfilling lives.

72
Q

What are the two important uses of karyograms?

A

-To deduce the sex of an individual.

-To diagnose for chromosomal abnormalities such as Down syndrome in humans.

73
Q

What organisms can karyotyping be used for?

A

-It can be used for almost all eukaryotic species.

-It is most frequently used in humans, but is also used in scientific research, agriculture, and more.

74
Q

Diagram showing karyograms for a typical corn plant and a dog

A
75
Q

What should you look for when analyzing a karyogram?

A

-Always first look for the sex chromosomes, and then analyse whether there are too many autosomes or if one of them is missing.

-Remember to check chromosome 21 specifically.

76
Q

What can karyotyping diagnose?

A

-Only large-scale chromosomal differences.

-Conditions caused by differences in one or a few genes would be invisible at the level of the chromosome.

77
Q

What can be concluded on the basis of the following karyogram?

A

Male with a normal set of chromosomes

78
Q

What can be concluded on the basis of the following karyogram?

A

Female with Down syndrome

79
Q

What can be concluded on the basis of the following karyogram? (whether non-disjunction has occured and what sex the individual is)

A

Non-disjunction has occurred and the individual is male.

The three chromosomes for 21 indicate that non-disjunction has occurred. The presence of an X and Y chromosome tells us the individual is a male.

80
Q

Use of databases (page)

A
81
Q

What was understanding of the chromosome structure of higher orgnaisms hindered by before 1963?

A

By the lack of knowledge about the actual length of the DNA molecules in the chromosomes.

82
Q

What did John Cairns publish?

A

In 1963, John Cairns published a technique for measuring the length of DNA molecules by autoradiography.

83
Q

What does autoradiography allow?

A

It allows radioactive molecules to, in effect, take pictures of themselves.

84
Q

What is autoradiography?

A

-A technique that uses X-ray film to visualise the two-dimensional distribution of a radioactively labelled substance.

-The image formed through autoradiography is called an autoradiograph.

85
Q

What did Cairns first produce images of using autoradiography?

A

DNA molecules from Escherichia coli (E. coli)

86
Q

Steps 1-3 of Cairns’ technique to produce images of DNA molecules from Escherichia coli (E. coli)

A

1) He produced thymidine (the nucleotide containing thymine) labelled with radioactive hydrogen ( 3 H).

2) Next, he grew E. coli bacteria in a medium containing the radioactive thymidine. When the E. coli cells replicated their DNA, they used the radioactive thymine, creating radioactive DNA.

3) He then lysed the cells (ruptured their cell walls and membranes) to release the cell contents, including the intact bacterial DNA, onto slides.

87
Q

Steps 4-7 of Cairns’ technique to produce images of DNA molecules from Escherichia coli (E. coli)

A

4) Next, he covered the slides with photographic emulsion and stored them in the dark for two months.

5) During that period, high energy electrons emitted by the radioactive decay of 3 H within the DNA caused the appearance of dark spots on the photographic emulsion.

6) The pattern of dark spots indicated the presence of labelled DNA.

7) The length of the E. coli chromosome could then be measured and was worked out to be about 1 mm, nearly 1 000× longer than the typical E. coli cell.

88
Q

Iillustration of an autoradiograph produced by Cairns’ technique and its interpretation

A
89
Q

What creates the dark spots seen on the photographic emulsion in an autoradiograph?

A

High energy electrons released from the DNA itself.

90
Q

Cairns used autoradiography as a technique to measure the length of ___

A

DNA molecules